Journal Article

Allele-Specific X-Linked Gene Activity in Normal Human Cells Assayed by Expressed Single Nucleotide Polymorphisms (cSNPs)

Luciana R. Vasques and Lygia V. Pereira

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 8, issue 4, pages 173-177
Published in print January 2001 | ISSN: 1340-2838
Published online January 2001 | e-ISSN: 1756-1663 | DOI:

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In mammals, dosage compensation at X-linked loci is achieved by the process of X chromosome in-activation in the homogametic sex. While most genes on the inactive X chromosome (Xi) are subjected to transcriptional inactivation, some escape inactivation and present biallelic expression. The expression status of X-linked genes has been extensively studied in somatic cell hybrids containing only the human Xi. Although this approach has recently been used to generate a profile of X-linked gene activity, it may not reflect what happens in a normal human cell. The recent development of a database of single nucleotide polymorphisms (SNPs) throughout the human genome enables investigation of allele-specific gene expression in normal human cells. In this study, we established a panel of X-linked expressed SNPs (cSNPs). These markers were used for monitoring gene expression in primary human flbroblast cell lines with completely skewed XCI, demonstrating the potential of this system for studying X-linked gene expression in normal human cells.

Keywords: single nucleotide polymorphisms (SNP); expressed polymorphisms; dosage compensation; X chromosome inactivation; imprinting

Journal Article.  0 words. 

Subjects: Genetics and Genomics

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